Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Tessa Wassenberg"'
Autor:
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42
Externí odkaz:
https://doaj.org/article/57ed0d119cac4d23beb8d71a0c1e8d75
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/be41af8128154b17bae7590996d85f93
Autor:
Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
Abstract Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesi
Externí odkaz:
https://doaj.org/article/5335fbb4b17444b0bc5403d7a034e417
Autor:
Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100762- (2021)
Background: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of mon
Externí odkaz:
https://doaj.org/article/c28e041f2c7e438b9044e2ecb93a93aa
Publikováno v:
Case Reports in Pediatrics, Vol 2021 (2021)
A 13-month-old boy had suffered three episodes of complex febrile seizures. At this admission, there were signs of hyperexcitability, such as Trousseau sign and QTc prolongation. A point of care blood gas analysis revealed severe hypocalcemia. Theref
Externí odkaz:
https://doaj.org/article/32c1f06a046049aa95524e24992a9b59
Autor:
Erik-Jan Kamsteeg, Michèl A.A.P. Willemsen, Meyke Schouten, Rick C. Helmich, Bart P.C. van de Warrenburg, Tessa Wassenberg
Publikováno v:
Parkinsonism & Related Disorders, 74, 12-15
Parkinsonism & Related Disorders, 74, pp. 12-15
Parkinsonism & Related Disorders, 74, pp. 12-15
Background Autosomal dominant GCH1 mutations are known to cause dopa-responsive dystonia (DRD). In this case series, we confirm a variant phenotype, characterized by predominant spastic paraplegia at disease onset with development of dystonia and/or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f898b9e3d1e9dcfec4b02546444661f
https://hdl.handle.net/2066/220217
https://hdl.handle.net/2066/220217
Publikováno v:
Case Reports in Pediatrics, Vol 2021 (2021)
Case Reports in Pediatrics
Case Reports in Pediatrics
A 13-month-old boy had suffered three episodes of complex febrile seizures. At this admission, there were signs of hyperexcitability, such as Trousseau sign and QTc prolongation. A point of care blood gas analysis revealed severe hypocalcemia. Theref
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97f11902298da5f00240a7fba029c7a8
https://doi.org/10.1155/2021/1798741
https://doi.org/10.1155/2021/1798741
Autor:
Beat Thöny, Alba Tristán-Noguero, Gabriella Horvath, Zuhal Yapici, Tessa M. A. Peters, Roser Pons, Kathrin Jeltsch, Tessa Wassenberg, Keith Hyland, Guillermo Agosta, Jennifer Friedman, Michèl A.A.P. Willemsen, Eduardo López-Laso, Thomas Opladen, Eduard Sabidó, Eva Borràs, Angels García-Cazorla, Rafael Artuch, Marta Molero-Luis, Marcel M. Verbeek
Publikováno v:
MOVEMENT DISORDERS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Movement Disorders, 36, 690-703
Movement Disorders, 36, 3, pp. 690-703
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Movement Disorders, 36, 690-703
Movement Disorders, 36, 3, pp. 690-703
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
BACKGROUND: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9571a92f2315553afa19466fb21acffc
https://biblio.vub.ac.be/vubir/novel-protein-biomarkers-of-monoamine-metabolism-defects-correlate-with-disease-severity(7b159045-765e-471c-a596-cf6da323a1f9).html
https://biblio.vub.ac.be/vubir/novel-protein-biomarkers-of-monoamine-metabolism-defects-correlate-with-disease-severity(7b159045-765e-471c-a596-cf6da323a1f9).html
Autor:
Ido P. Kema, Leo A. H. Monnens, Marcel M. Verbeek, Mirjam E. van Albada, Ton H. van den Meiracker, Tessa Wassenberg, Jorie Versmissen, Erik-Jan Kamsteeg, Michèl A.A.P. Willemsen, Jaap Deinum, Jacques W.M. Lenders, Maartje Pennings, Frans J. van Ittersum, Ron A. Wevers
Publikováno v:
Journal of Inherited Metabolic Disease, 44, 554-565
Wassenberg, T, Deinum, J, van Ittersum, F J, Kamsteeg, E-J, Pennings, M, Verbeek, M M, Wevers, R A, van Albada, M E, Kema, I P, Versmissen, J, van den Meiracker, T, Lenders, J W M, Monnens, L & Willemsen, M A 2021, ' Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency ', Journal of Inherited Metabolic Disease, vol. 44, no. 3, pp. 554-565 . https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease, 44, 3, pp. 554-565
Journal of Inherited Metabolic Disease
Wassenberg, T, Deinum, J, van Ittersum, F J, Kamsteeg, E-J, Pennings, M, Verbeek, M M, Wevers, R A, van Albada, M E, Kema, I P, Versmissen, J, van den Meiracker, T, Lenders, J W M, Monnens, L & Willemsen, M A 2021, ' Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency ', Journal of Inherited Metabolic Disease, vol. 44, no. 3, pp. 554-565 . https://doi.org/10.1002/jimd.12321
Journal of Inherited Metabolic Disease, 44, 3, pp. 554-565
Journal of Inherited Metabolic Disease
Contains fulltext : 234019.pdf (Publisher’s version ) (Open Access) Dopamine beta hydroxylase (DBH) deficiency is an extremely rare autosomal recessive disorder with severe orthostatic hypotension, that can be treated with L-threo-3,4-dihydroxyphen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5b58907bc3077eda89a2ffb570682fa
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/234019
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/234019
Autor:
Manju A. Kurian, Simon Pope, Francesco Porta, Oya Kuseyri Hübschmann, Roser Pons, Jennifer Friedman, Birgit Assmann, Yilmaz Yildiz, Alberto Burlina, Kathrin Jeltsch, Toni S. Pearson, Helly Goez, Angeles Garcia-Cazorla, Rafael Artuch, Vincenzo Leuzzi, Simon Heales, Sabine Scholl-Bürgi, H. Serap Sivri, Thomas Opladen, Georg F. Hoffmann, Tessa Wassenberg, Marcel M. Verbeek, Eduardo López-Laso, Mario Mastrangelo, Tomas Honzik, Jan Kulhánek, Gabriella Horvath, Luc Régal, Elisenda Cortès-Saladelafont, Beat Thöny
Publikováno v:
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)
Tetrahydrobiopterin (BHAlthough the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b95be8112c036ca574116b00ea3c62
https://doi.org/10.1186/s13023-020-01464-y
https://doi.org/10.1186/s13023-020-01464-y